You are here:

Creutzfeldt Jakob Disease

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Creutzfeldt Jakob Disease is not the name you expected.

Disorder Subdivisions

None

General Discussion

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive processes and memory (dementia), resulting in confusion and disorientation, impairment of memory control, personality disintegration, agitation, restlessness, and other symptoms and findings. Affected individuals also develop neuromuscular abnormalities such as muscle weakness and loss of muscle mass (wasting); irregular, rapid, shock-like muscle spasms (myoclonus); and/or relatively slow, involuntary, continual writhing movements (athetosis), particularly of the arms and legs. Later stages of the disease may include further loss of physical and intellectual functions, a state of unconsciousness (coma), and increased susceptibility to repeated infections of the respiratory tract (e.g., pneumonia). In many affected individuals, life-threatening complications may develop less than a year after the disorder becomes apparent.

In approximately 90 percent of cases, CJD appears to occur randomly for no apparent reason (sporadically). About 10 percent of affected individuals may have a hereditary predisposition for the disorder. Reports in the medical literature suggest that familial cases of CJD are consistent with an autosomal dominant mode of inheritance. In addition, in some extremely rare cases, CJD may take an infectious form. The disorder is thought to result from changes (mutations) in the gene that regulates the production of the human prion protein or direct contamination (transmission) with abnormal prion protein in infected brain tissue.

A variant form of CJD (V-CJD) has been reported in the United Kingdom that affects younger people (median age at onset: 28 years) than does classic CJD. In 1996, experts suggested the possibility that this variant might be associated with consumption of beef from cows with a related infectious brain disorder known as Bovine Spongiform Encephalopathy (BSE) or "Mad Cow Disease." BSE was first identified in the UK in 1986 and the number of reported cases grew rapidly, peaking in the winter of 1992-93 when almost 1,000 new cases were reported each week. Later, BSE also began to appear in some other European countries. Scientific research and debate continue concerning the potential link between BSE and V-CJD. In addition, coordinated national and international efforts are in place concerning the prevention, study, and surveillance of BSE and CJD. In early December 2000, European Union agriculture ministers agreed upon new measures to combat the spread of mad cow disease, including incinerating any cow over 30 months of age that had not tested negative for BSE. (BSE is thought to become detectable and infectious when cattle are approximately 30 months old.)

Supporting Organizations

Alzheimer's Association

225 N. Michigan Avenue

17th Floor

Chicago, IL 60601

USA

Tel: (312)335-8700

Fax: (866)699-1246

Tel: (800)272-3900

Email: info@alz.org

Website: http://www.alz.org

Alzheimer's Disease Education and Referral Center

P.O. Box 8250

Silver Spring, MD 20907-8250

Tel: (301)495-3311

Fax: (301)495-3334

Tel: (800)438-4380

Email: adear@nia.nih.gov

Website: http://www.nia.nih.gov/alzheimers

CJD Aware!

2527 South Carrollton Avenue

New Orleans, LA 70118-3013

USA

Tel: (504)861-4627

Email: info@cjdaware.com

Website: http://www.cjdaware.com

CJD Voice

Website: http://www.cjdvoice.org

Centers for Disease Control and Prevention

1600 Clifton Road NE

Atlanta, GA 30333

Tel: (404)639-3534

Tel: (800)232-4636

Email: cdcinfo@cdc.gov

Website: http://www.cdc.gov/

Creutzfeldt-Jakob Disease Foundation, Inc.

341 W. 38th Street

Suite 501

New York, NY 10018

USA

Tel: (212)719-5900

Fax: (212)256-0359

Tel: (800)659-1991

Email: help@cjdfoundation.org

Website: http://www.cjdfoundation.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Allergy and Infectious Diseases

NIAID Office of Communications and Government Relations

5601 Fishers Lane, MSC 9806

Bethesda, MD 20892-9806

Tel: (301)496-5717

Fax: (301)402-3573

Tel: (866)284-4107

Email: ocpostoffice@niaid.nih.gov

Website: http://www.niaid.nih.gov/

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

National Hospice and Palliative Care Organization

1731 King Street, Suite 100

Alexandria, VA 22314

USA

Tel: (703)837-1500

Fax: (703)837-1233

Tel: (800)658-8898

Email: nhpco_info@nhpco.org

Website: http://www.nhpco.org

National Prion Disease Pathology Surveillance Center

Institute of Pathology

Case Western Reserve University

Cleveland, OH 44106-4907

USA

Tel: (216)368-0587

Fax: (216)368-4090

Email: cjdsurv@cwru.edu

Website: http://www.cjdsurveillance.com

Prion Alliance

P.O. Box 391953

Cambridge, MA 2139

Email: prionalliance@gmail.com

Website: http://www.prionalliance.org

UCSF Memory and Aging Center

350 Parnassus Avenue

Suite 905

San Francisco, CA 94117

Tel: (415)476-6880

Fax: (415)476-4800

Email: mgeschwind@memory.ucsf.edu

Website: http://www.memory.ucsf.edu

World Health Organization (WHO)

Avenue Appia 20

Geneva 27, 1211

Switzerland

Tel: 41227912111

Fax: 41227913111

Website: http://www.who.int/en/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 4/7/2009Copyright 2009 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated, disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Learn how we develop our content.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.